rs730881970
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
| Make rs730881970(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 19 |
| Position | 1219358 |
| Gene | STK11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730881970 |
| dbSNP (classic) | rs730881970 |
| ClinGen | rs730881970 |
| ebi | rs730881970 |
| HLI | rs730881970 |
| Exac | rs730881970 |
| Gnomad | rs730881970 |
| Varsome | rs730881970 |
| LitVar | rs730881970 |
| Map | rs730881970 |
| PheGenI | rs730881970 |
| Biobank | rs730881970 |
| 1000 genomes | rs730881970 |
| hgdp | rs730881970 |
| ensembl | rs730881970 |
| geneview | rs730881970 |
| scholar | rs730881970 |
| rs730881970 | |
| pharmgkb | rs730881970 |
| gwascentral | rs730881970 |
| openSNP | rs730881970 |
| 23andMe | rs730881970 |
| SNPshot | rs730881970 |
| SNPdbe | rs730881970 |
| MSV3d | rs730881970 |
| GWAS Ctlg | rs730881970 |
| Max Magnitude | 5.8 |
c.409C>T (p.Gln137Ter)
23andMe name: i6018866
| ClinVar | |
|---|---|
| Risk | rs730881970(A;A) rs730881970(T;T) |
| Alt | rs730881970(A;A) rs730881970(T;T) |
| Reference | Rs730881970(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | STK11 |
| CLNDBN | Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000019.9:g.1219357C>A; NC_000019.9:g.1219357C>T |
| CLNSRC | |
| CLNACC | RCV000164582.1, RCV000492356.1, |
